Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Mucocutaneous Ulceration, Chronic |
|
Vaginal mucosal ulceration |
OMIM:618287 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer |
ORPHA:145 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... |
OMIM:273250 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Hematocolpos, Uterus didelphys, Partial vaginal septum |
OMIM:192050 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... |
OMIM:614837 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... |
OMIM:612964 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Leydig Cell Hypoplasia |
|
Increased circulating gonadotropin level, Cryptorchidism, Abnormal external genitalia, Abnormal v... |
ORPHA:755 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Ovarian Dysgenesis 2 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary |
OMIM:300510 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Perlman Syndrome |
|
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis |
ORPHA:2849 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... |
OMIM:619203 |
Hymen, Imperforate |
|
Hematocolpos, Imperforate hymen, Hydrocolpos |
OMIM:237100 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... |
ORPHA:99429 |
Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... |
OMIM:612310 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... |
OMIM:619665 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic... |
OMIM:601346 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... |
ORPHA:2470 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Transverse vaginal septum, Ab... |
ORPHA:65681 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification |
OMIM:167800 |
Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... |
ORPHA:103918 |
Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... |
ORPHA:83628 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... |
ORPHA:90793 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... |
ORPHA:3130 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina |
OMIM:146255 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... |
OMIM:615300 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification |
OMIM:608189 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... |
OMIM:202010 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary |
ORPHA:247768 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... |
ORPHA:168558 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... |
ORPHA:93111 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia |
OMIM:615935 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Polysplenia, Pancreatic cysts |
OMIM:211890 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... |
ORPHA:289548 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Par... |
ORPHA:2237 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... |
ORPHA:456312 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... |
ORPHA:432 |
Igg4-Related Submandibular Gland Disease |
|
Prostatitis, Abnormal pancreas morphology, Sialadenitis, Abnormal salivary gland morphology, Abno... |
ORPHA:449432 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... |
ORPHA:64744 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, male, Elevated circulating follicle stimulating ho... |
ORPHA:90796 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... |
ORPHA:785 |
Kennerknecht syndrome |
|
Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
Popliteal Pterygium Syndrome |
|
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:119500 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ambiguous genitalia |
OMIM:615503 |
Oeis Complex |
|
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... |
OMIM:258040 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic steatosis |
OMIM:616263 |
Meckel Syndrome |
|
Urethral atresia, Male pseudohermaphroditism, Pancreatic fibrosis, Accessory spleen, Congenital h... |
ORPHA:564 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Pheochromocytoma, Hepatic hema... |
OMIM:193300 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Elevated hepatic iron concentration |
ORPHA:48818 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia |
OMIM:271520 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis |
OMIM:619879 |
Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas defer... |
OMIM:137920 |
Feingold Syndrome |
|
Annular pancreas, Abnormality of the spleen |
ORPHA:1305 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:609441 |
Jacobsen Syndrome |
|
Annular pancreas, Labial hypoplasia, Hypospadias, Clitoral hypoplasia, Cryptorchidism |
OMIM:147791 |
Pontocerebellar Hypoplasia Type 7 |
|
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... |
ORPHA:284339 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic cysts, Portal hypertension, Pancreatic c... |
OMIM:263200 |
Nephronophthisis 13 |
|
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:614377 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology |
ORPHA:1521 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct proliferation, Jaundic... |
OMIM:208500 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... |
OMIM:241080 |
Bohring-Opitz Syndrome |
|
Hyperechogenic pancreas, Supernumerary nipple |
OMIM:605039 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... |
ORPHA:90794 |
Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Hepatomegaly |
OMIM:200995 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma |
OMIM:232220 |
Limb-Mammary Syndrome |
|
Absent nipple, Bilateral breast hypoplasia, Hypoplastic nipples, Breast aplasia, Aplasia of the u... |
ORPHA:69085 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Shwachman-Diamond Syndrome 2 |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly |
OMIM:617941 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ambiguous genitalia, Hepatic fibrosis, Micropenis |
OMIM:263520 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... |
OMIM:610199 |
Meckel Syndrome, Type 7 |
|
Hepatosplenomegaly, Cholestasis, Portal hypertension, Bile duct proliferation, Pancreatic cysts, ... |
OMIM:267010 |
Chromosome 17Q12 Deletion Syndrome |
|
Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplasia of the vagina... |
OMIM:614527 |
17Q12 Microdeletion Syndrome |
|
Pancreatic aplasia, Cryptorchidism, Shawl scrotum |
ORPHA:261265 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:2879 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology |
ORPHA:1190 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Absent gallbladder, Asplenia |
ORPHA:210122 |
Coffin-Siris Syndrome 9 |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test |
OMIM:615866 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Hypoplastic spleen, Cryptorch... |
OMIM:601186 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Annular pancreas, Cryptorchidism, Micropenis |
OMIM:227646 |
Fryns Syndrome |
|
Bicornuate uterus, Bifid scrotum, Hypospadias, Ectopic pancreatic tissue, Shawl scrotum, Cryptorc... |
OMIM:229850 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Micropenis, Stre... |
ORPHA:3464 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Ps... |
ORPHA:116 |
Feingold Syndrome 1 |
|
Annular pancreas, Accessory spleen, Polysplenia, Asplenia |
OMIM:164280 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Accessory spleen, Gonad... |
OMIM:618419 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus |
OMIM:110100 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas |
OMIM:618162 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Cryptorchidism, Hypogonadism |
OMIM:268400 |
Trisomy 8P |
|
Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism, Micropenis |
ORPHA:264450 |
Pearson Syndrome |
|
Hypoparathyroidism, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased response to growth... |
ORPHA:699 |
Distal Monosomy 12Q |
|
Annular pancreas, Pituitary adenoma, Micropenis, Biliary atresia, Unilateral cryptorchidism |
ORPHA:96149 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Micropenis, Unilateral cryptorchidism, Hepatopulmonary fusion, Accessory spleen, A... |
OMIM:618280 |
Pearson Marrow-Pancreas Syndrome |
|
Pancreatic fibrosis, Exocrine pancreatic insufficiency, Hepatomegaly, Macronodular cirrhosis |
OMIM:557000 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Hypospadias, Cryptorchidism |
OMIM:616975 |
Exstrophy-Epispadias Complex |
|
Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Epi... |
ORPHA:322 |
1P36 Deletion Syndrome |
|
Annular pancreas, Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Abnormality of fem... |
ORPHA:1606 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis |
OMIM:614083 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Hepatosplenomegaly, Pancreatic cysts |
OMIM:274000 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy |
OMIM:309801 |
Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism |
ORPHA:2308 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Hypospadias, Bicornuate uterus, Asplenia |
OMIM:265380 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas |
ORPHA:488642 |
Schinzel-Giedion Syndrome |
|
Annular pancreas, Hepatoblastoma, Micropenis, Streak ovary, Hypospadias |
ORPHA:798 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Adrenal gland dysgenesis |
OMIM:236680 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating lute... |
ORPHA:572333 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine prolapse, Uterine rupture, Cystocele, Cervical insufficiency, Cryptorchidism |
OMIM:130050 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Urethral valve, Cryptorchidism, ... |
OMIM:107480 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Hypospadias, Accessory spleen, Biliary tract abnormality, Aplasia of the uter... |
OMIM:194190 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Hypospadias, Hypoplastic nipples, Aplasia of the uterus, Cryptorc... |
OMIM:276820 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
Coffin-Siris Syndrome 1 |
|
Aplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypertrophy |
OMIM:135900 |
Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Peters-Plus Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Hypoplasia of the vagina, Clitoral hypoplasia, Biliary tra... |
OMIM:261540 |
Norrie Disease |
|
Cryptorchidism, Uterine rupture |
ORPHA:649 |
Vascular Ehlers-Danlos Syndrome |
|
Uterine prolapse, Cystocele, Uterine rupture, Hypospadias, Cryptorchidism |
ORPHA:286 |
Peters Plus Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Cryptorchidism |
ORPHA:709 |
Pallister-Killian Syndrome |
|
Labial hypoplasia, Supernumerary nipple, Hypospadias, Aplasia of the upper vagina, Hypoplastic la... |
OMIM:601803 |